ClinVar Miner

List of variants in gene combination ENG, LOC102723566 reported as uncertain significance by Invitae

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Gene type:
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Total variants: 80
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HGVS dbSNP gnomAD frequency
NM_001114753.3(ENG):c.1135C>G (p.His379Asp) rs771599199 0.00002
NM_001114753.3(ENG):c.1311+6A>G rs1060501416 0.00002
NM_001114753.3(ENG):c.1538A>G (p.Lys513Arg) rs765564489 0.00002
NM_001114753.3(ENG):c.1274C>T (p.Ala425Val) rs369997021 0.00001
NM_001114753.3(ENG):c.1313A>G (p.Lys438Arg) rs755962839 0.00001
NM_001114753.3(ENG):c.1314A>G (p.Lys438=) rs750412250 0.00001
NM_001114753.3(ENG):c.1335G>A (p.Met445Ile) rs777564305 0.00001
NM_001114753.3(ENG):c.1402G>C (p.Glu468Gln) rs370554511 0.00001
NM_001114753.3(ENG):c.1408G>C (p.Gly470Arg) rs756263325 0.00001
NM_001114753.3(ENG):c.1428+5C>G rs1564452925 0.00001
NM_001114753.3(ENG):c.1528C>T (p.Arg510Trp) rs201517535 0.00001
NM_001114753.3(ENG):c.1592G>A (p.Ser531Asn) rs780884220 0.00001
NM_001114753.3(ENG):c.1696A>G (p.Arg566Gly) rs1428529909 0.00001
NM_001114753.3(ENG):c.1730C>G (p.Pro577Arg) rs759341808 0.00001
NM_001114753.3(ENG):c.1135C>A (p.His379Asn) rs771599199
NM_001114753.3(ENG):c.1153A>C (p.Thr385Pro) rs1830434864
NM_001114753.3(ENG):c.1153A>G (p.Thr385Ala) rs1830434864
NM_001114753.3(ENG):c.1171G>C (p.Asp391His) rs1830434474
NM_001114753.3(ENG):c.1172A>G (p.Asp391Gly) rs2131879297
NM_001114753.3(ENG):c.1177A>G (p.Ser393Gly) rs781518626
NM_001114753.3(ENG):c.1181G>A (p.Cys394Tyr) rs1830434129
NM_001114753.3(ENG):c.1197G>C (p.Arg399Ser) rs1418330913
NM_001114753.3(ENG):c.1216C>T (p.Arg406Cys) rs751787590
NM_001114753.3(ENG):c.1223C>T (p.Ala408Val)
NM_001114753.3(ENG):c.1241T>C (p.Met414Thr) rs1830432509
NM_001114753.3(ENG):c.1242G>C (p.Met414Ile)
NM_001114753.3(ENG):c.1256G>C (p.Ser419Thr)
NM_001114753.3(ENG):c.1263C>G (p.Ile421Met) rs760446518
NM_001114753.3(ENG):c.1271A>T (p.Glu424Val)
NM_001114753.3(ENG):c.1272+2dup
NM_001114753.3(ENG):c.1273-21_1273-20delinsAT
NM_001114753.3(ENG):c.1273-4_1273-3delinsAA rs1830425770
NM_001114753.3(ENG):c.1273G>A (p.Ala425Thr)
NM_001114753.3(ENG):c.1274C>A (p.Ala425Glu) rs369997021
NM_001114753.3(ENG):c.1276G>A (p.Val426Met) rs1830425455
NM_001114753.3(ENG):c.1292C>T (p.Ser431Leu) rs761353511
NM_001114753.3(ENG):c.1295G>A (p.Ser432Asn) rs763594769
NM_001114753.3(ENG):c.1300T>A (p.Ser434Thr)
NM_001114753.3(ENG):c.1312-3C>G rs2131877153
NM_001114753.3(ENG):c.1317G>C (p.Lys439Asn)
NM_001114753.3(ENG):c.1336G>A (p.Asp446Asn) rs1830399300
NM_001114753.3(ENG):c.1336G>T (p.Asp446Tyr)
NM_001114753.3(ENG):c.1350C>T (p.Phe450=)
NM_001114753.3(ENG):c.1357G>C (p.Gly453Arg) rs1830398628
NM_001114753.3(ENG):c.1361T>C (p.Leu454Pro)
NM_001114753.3(ENG):c.1385A>G (p.Gln462Arg) rs2131876977
NM_001114753.3(ENG):c.1393A>G (p.Asn465Asp) rs1830397241
NM_001114753.3(ENG):c.1414C>G (p.Gln472Glu)
NM_001114753.3(ENG):c.1419C>G (p.Ser473Arg) rs561818608
NM_001114753.3(ENG):c.1427A>G (p.Gln476Arg) rs1830394955
NM_001114753.3(ENG):c.1427A>T (p.Gln476Leu) rs1830394955
NM_001114753.3(ENG):c.1428+5C>A rs1564452925
NM_001114753.3(ENG):c.1429-3C>T
NM_001114753.3(ENG):c.1441C>T (p.Pro481Ser) rs1554809289
NM_001114753.3(ENG):c.1453G>A (p.Glu485Lys)
NM_001114753.3(ENG):c.1456T>C (p.Phe486Leu) rs1830385483
NM_001114753.3(ENG):c.1486G>A (p.Asp496Asn) rs2131876065
NM_001114753.3(ENG):c.1502G>A (p.Gly501Glu) rs2131876010
NM_001114753.3(ENG):c.1532C>A (p.Ala511Glu)
NM_001114753.3(ENG):c.1534G>A (p.Ala512Thr) rs2131875889
NM_001114753.3(ENG):c.1600C>T (p.Leu534Phe)
NM_001114753.3(ENG):c.1603_1608del (p.His535_Phe536del)
NM_001114753.3(ENG):c.1648A>C (p.Thr550Pro)
NM_001114753.3(ENG):c.1655C>T (p.Ala552Val)
NM_001114753.3(ENG):c.1664C>A (p.Pro555His)
NM_001114753.3(ENG):c.1673G>A (p.Gly558Glu)
NM_001114753.3(ENG):c.1682A>G (p.Asp561Gly) rs375965489
NM_001114753.3(ENG):c.1685A>C (p.Gln562Pro)
NM_001114753.3(ENG):c.1686G>C (p.Gln562His)
NM_001114753.3(ENG):c.1695T>A (p.His565Gln) rs750637713
NM_001114753.3(ENG):c.1699A>G (p.Thr567Ala) rs1554809101
NM_001114753.3(ENG):c.1709T>C (p.Met570Thr)
NM_001114753.3(ENG):c.1711C>A (p.Arg571Ser)
NM_001114753.3(ENG):c.1711C>G (p.Arg571Gly)
NM_001114753.3(ENG):c.1721TCA[1] (p.Ile575del) rs777038953
NM_001114753.3(ENG):c.1724T>C (p.Ile575Thr) rs1284713532
NM_001114753.3(ENG):c.1725C>G (p.Ile575Met) rs1333193699
NM_001114753.3(ENG):c.1726A>G (p.Ser576Gly) rs1564452024
NM_001114753.3(ENG):c.1728C>A (p.Ser576Arg) rs2131873779
NM_001114753.3(ENG):c.1738T>A (p.Ser580Thr)

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